Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene
Summary
Autosomal dominant mental retardation type 5 (MRD5) is a rare neurodevelopmental disorder caused by mutations in the SYNGAP1 gene. Here, we established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 30-month-old boy carrying a heterozygous mutation (c.2059C > T) in the SYNGAP1 gene. The iPSCs exhibited a normal karyotype, expressed pluripotency markers, and displayed differentiation potential in vitro. Copyright © 2022. Published by Elsevier B.V.
| Authors | Wang Y, Lv Y, Yang X, Li Y, Li Z, Gao Z, Gai Z, Liu Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Oct;64:102922 |
| PubMed | 36183676 |
| DOI | 10.1016/j.scr.2022.102922 |